Incidental Mutation 'R4808:Rbm19'
ID 370825
Institutional Source Beutler Lab
Gene Symbol Rbm19
Ensembl Gene ENSMUSG00000029594
Gene Name RNA binding motif protein 19
Synonyms 1200009A02Rik
MMRRC Submission 042427-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4808 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120254578-120337036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120256839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 51 (S51P)
Ref Sequence ENSEMBL: ENSMUSP00000144339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031590] [ENSMUST00000202777]
AlphaFold Q8R3C6
Predicted Effect probably damaging
Transcript: ENSMUST00000031590
AA Change: S51P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: S51P

DomainStartEndE-ValueType
RRM 3 75 7.64e-20 SMART
Pfam:RRM_u2 81 277 1.7e-10 PFAM
RRM 294 364 9.14e-9 SMART
RRM 401 474 6.4e-22 SMART
RRM 585 652 1.6e-4 SMART
coiled coil region 694 717 N/A INTRINSIC
RRM 723 799 4.59e-23 SMART
RRM 825 900 9.4e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202388
Predicted Effect probably damaging
Transcript: ENSMUST00000202777
AA Change: S51P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: S51P

DomainStartEndE-ValueType
RRM 3 75 3.3e-22 SMART
Pfam:RRM_u2 81 269 1.2e-6 PFAM
RRM 294 364 3.9e-11 SMART
RRM 401 474 2.7e-24 SMART
RRM 585 652 7e-7 SMART
coiled coil region 694 717 N/A INTRINSIC
RRM 723 799 2e-25 SMART
Pfam:RRM_6 826 865 1.1e-3 PFAM
Pfam:RRM_1 826 870 8.5e-6 PFAM
Meta Mutation Damage Score 0.2331 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abi3bp A G 16: 56,414,879 (GRCm39) D347G probably damaging Het
Adora2a A G 10: 75,169,280 (GRCm39) N248S probably damaging Het
Agap3 T C 5: 24,706,243 (GRCm39) F836L probably benign Het
Arap2 G A 5: 62,887,984 (GRCm39) T454M probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atm A G 9: 53,356,795 (GRCm39) S2819P probably damaging Het
Atp8b1 A G 18: 64,694,782 (GRCm39) F500S probably benign Het
Catsper1 G A 19: 5,394,164 (GRCm39) D682N possibly damaging Het
Chordc1 A G 9: 18,203,709 (GRCm39) Y6C probably damaging Het
Cped1 A G 6: 22,088,756 (GRCm39) K273R probably damaging Het
Crat T C 2: 30,300,033 (GRCm39) I116V probably benign Het
Cyp26a1 A G 19: 37,689,573 (GRCm39) H423R probably benign Het
Cyp4f40 A G 17: 32,893,249 (GRCm39) E360G probably benign Het
D430041D05Rik A C 2: 104,031,455 (GRCm39) probably null Het
Eif3i A T 4: 129,485,857 (GRCm39) F323I probably benign Het
Fam53a A G 5: 33,765,023 (GRCm39) S228P probably damaging Het
Gm10305 C T 4: 99,161,481 (GRCm39) noncoding transcript Het
Gm7347 C T 5: 26,259,995 (GRCm39) R185H probably benign Het
Golga2 G T 2: 32,193,226 (GRCm39) A441S probably benign Het
Gphn T A 12: 78,701,654 (GRCm39) S608T probably benign Het
Gramd1b A T 9: 40,215,645 (GRCm39) V620E possibly damaging Het
H2bc18 T G 3: 96,177,329 (GRCm39) S88A probably benign Het
H2-M9 T C 17: 36,951,684 (GRCm39) T264A probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd3b6 G A 3: 98,713,601 (GRCm39) H233Y probably damaging Het
Ighv6-7 T A 12: 114,419,341 (GRCm39) R88* probably null Het
Jup C T 11: 100,269,018 (GRCm39) R465H probably damaging Het
Kif16b A T 2: 142,699,278 (GRCm39) Y101N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Myocos T C 1: 162,484,609 (GRCm39) probably benign Het
Nav1 C T 1: 135,382,942 (GRCm39) G1197S probably damaging Het
Oas1g T G 5: 121,017,385 (GRCm39) K223T possibly damaging Het
Oprd1 G A 4: 131,844,705 (GRCm39) T101M probably damaging Het
Or14c40 A G 7: 86,313,146 (GRCm39) D92G probably benign Het
Or51g2 T C 7: 102,623,118 (GRCm39) H27R probably damaging Het
Pcdha7 G A 18: 37,107,281 (GRCm39) C102Y probably damaging Het
Pcx T A 19: 4,670,956 (GRCm39) S1086T probably benign Het
Pde8a A G 7: 80,932,679 (GRCm39) T114A probably benign Het
Pias4 A G 10: 80,991,674 (GRCm39) probably null Het
Pkn3 G A 2: 29,980,093 (GRCm39) G750E probably damaging Het
Pramel5 G A 4: 143,999,325 (GRCm39) A254V probably benign Het
Ptprq A G 10: 107,554,368 (GRCm39) L119P probably damaging Het
Rasgrf2 A T 13: 92,160,190 (GRCm39) L395Q probably damaging Het
Rfx5 A G 3: 94,865,591 (GRCm39) T297A probably benign Het
Scaf1 T C 7: 44,658,063 (GRCm39) E272G probably damaging Het
Slc24a2 G T 4: 86,950,475 (GRCm39) Q396K probably benign Het
Slc39a14 T C 14: 70,553,250 (GRCm39) I162V probably damaging Het
Snap25 A G 2: 136,612,022 (GRCm39) D70G probably damaging Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Sppl3 T A 5: 115,221,485 (GRCm39) probably benign Het
Sspo A G 6: 48,428,095 (GRCm39) D314G probably damaging Het
Steap1 G T 5: 5,788,829 (GRCm39) probably benign Het
Suox T A 10: 128,507,758 (GRCm39) D90V possibly damaging Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tektl1 A T 10: 78,588,698 (GRCm39) D37E probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Uap1l1 A G 2: 25,252,097 (GRCm39) S473P probably damaging Het
Xpo5 T A 17: 46,546,896 (GRCm39) N882K probably benign Het
Zfp536 A T 7: 37,178,730 (GRCm39) C228S probably damaging Het
Other mutations in Rbm19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Rbm19 APN 5 120,281,503 (GRCm39) splice site probably benign
IGL01750:Rbm19 APN 5 120,256,857 (GRCm39) missense probably benign 0.00
IGL01830:Rbm19 APN 5 120,262,760 (GRCm39) missense possibly damaging 0.95
IGL02028:Rbm19 APN 5 120,258,301 (GRCm39) missense probably damaging 1.00
IGL02262:Rbm19 APN 5 120,281,470 (GRCm39) missense probably damaging 0.99
IGL03030:Rbm19 APN 5 120,269,311 (GRCm39) missense probably damaging 1.00
IGL03094:Rbm19 APN 5 120,261,023 (GRCm39) missense probably damaging 1.00
N/A:Rbm19 UTSW 5 120,282,162 (GRCm39) missense probably damaging 0.99
PIT4812001:Rbm19 UTSW 5 120,266,315 (GRCm39) missense possibly damaging 0.91
R0190:Rbm19 UTSW 5 120,282,111 (GRCm39) missense probably benign 0.30
R0350:Rbm19 UTSW 5 120,266,372 (GRCm39) missense possibly damaging 0.75
R0594:Rbm19 UTSW 5 120,266,381 (GRCm39) critical splice donor site probably null
R0924:Rbm19 UTSW 5 120,264,269 (GRCm39) missense probably benign 0.11
R0930:Rbm19 UTSW 5 120,264,269 (GRCm39) missense probably benign 0.11
R0963:Rbm19 UTSW 5 120,268,799 (GRCm39) missense possibly damaging 0.83
R1144:Rbm19 UTSW 5 120,261,081 (GRCm39) missense possibly damaging 0.87
R1438:Rbm19 UTSW 5 120,260,961 (GRCm39) missense probably benign 0.01
R1441:Rbm19 UTSW 5 120,269,241 (GRCm39) missense probably damaging 1.00
R1458:Rbm19 UTSW 5 120,282,094 (GRCm39) missense probably benign 0.00
R1518:Rbm19 UTSW 5 120,278,345 (GRCm39) small deletion probably benign
R1992:Rbm19 UTSW 5 120,271,948 (GRCm39) critical splice donor site probably null
R2029:Rbm19 UTSW 5 120,258,307 (GRCm39) missense possibly damaging 0.85
R3055:Rbm19 UTSW 5 120,271,075 (GRCm39) missense probably damaging 1.00
R4356:Rbm19 UTSW 5 120,278,427 (GRCm39) missense possibly damaging 0.72
R4817:Rbm19 UTSW 5 120,271,799 (GRCm39) intron probably benign
R4857:Rbm19 UTSW 5 120,270,898 (GRCm39) splice site probably benign
R4963:Rbm19 UTSW 5 120,279,631 (GRCm39) missense probably damaging 1.00
R5812:Rbm19 UTSW 5 120,279,642 (GRCm39) missense probably damaging 1.00
R5857:Rbm19 UTSW 5 120,271,007 (GRCm39) missense probably damaging 1.00
R5878:Rbm19 UTSW 5 120,270,932 (GRCm39) missense probably damaging 1.00
R5976:Rbm19 UTSW 5 120,278,372 (GRCm39) missense probably benign 0.01
R6345:Rbm19 UTSW 5 120,265,105 (GRCm39) missense possibly damaging 0.87
R6489:Rbm19 UTSW 5 120,258,195 (GRCm39) missense probably benign 0.06
R6495:Rbm19 UTSW 5 120,257,745 (GRCm39) missense probably damaging 1.00
R7081:Rbm19 UTSW 5 120,261,216 (GRCm39) critical splice donor site probably null
R7181:Rbm19 UTSW 5 120,254,532 (GRCm39) unclassified probably benign
R7307:Rbm19 UTSW 5 120,324,283 (GRCm39) missense possibly damaging 0.55
R8058:Rbm19 UTSW 5 120,278,440 (GRCm39) critical splice donor site probably null
R8432:Rbm19 UTSW 5 120,313,991 (GRCm39) missense probably damaging 1.00
R8696:Rbm19 UTSW 5 120,265,132 (GRCm39) missense probably damaging 0.98
R8910:Rbm19 UTSW 5 120,271,844 (GRCm39) missense probably damaging 1.00
R9261:Rbm19 UTSW 5 120,256,810 (GRCm39) missense probably damaging 1.00
R9424:Rbm19 UTSW 5 120,278,345 (GRCm39) small deletion probably benign
R9507:Rbm19 UTSW 5 120,265,232 (GRCm39) critical splice donor site probably null
R9695:Rbm19 UTSW 5 120,335,986 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTGTCTCTTGGCTCCAGG -3'
(R):5'- ACTTATCACTCGTGGTCAGGG -3'

Sequencing Primer
(F):5'- TTGGCTCCAGGGACCCTTC -3'
(R):5'- TTATCACTCGTGGTCAGGGTACAAAG -3'
Posted On 2016-02-04